A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM)

被引：10

作者：

Tozawa, Yusuke ^{[1
]}

Abdrabou, Shimaa Said Mohamed Ali ^{[1
]}

Nogawa-Chida, Natsuko ^{[1
,2
]}

Nishiuchi, Ritsuo ^{[3
]}

Ishida, Toshiaki ^{[4
]}

Suzuki, Yuichi ^{[5
]}

Sano, Hideki ^{[6
]}

Kobayashi, Ryoji ^{[7
]}

Kishimoto, Kenji ^{[7
]}

Ohara, Osamu ^{[8
]}

Imai, Kohsuke ^{[9
]}

Naruto, Takuya ^{[10
]}

Kobayashi, Kunihiko ^{[7
]}

Ariga, Tadashi ^{[11
]}

Yamada, Masafumi ^{[11
]}

机构：

[1] Hokkaido Univ, Grad Sch Med, Div Med, Dept Pediat, Sapporo, Hokkaido, Japan

[2] Hokkaido Univ, Grad Sch Dent Med, Dept Dent Children & Disabled Persons, Sapporo, Hokkaido, Japan

[3] Kochi Hlth Sci Ctr, Dept Pediat, Kochi, Japan

[4] Hyogo Prefectural Kobe Childrens Hosp, Dept Hematol & Oncol, Kobe, Hyogo, Japan

[5] Fukushima Med Univ, Sch Med, Dept Pediat, Fukushima, Japan

[6] Fukushima Med Univ Hosp, Dept Pediat Oncol, Fukushima, Japan

[7] Sapporo Hokuyu Hosp, Dept Pediat, Sapporo, Hokkaido, Japan

[8] Kazusa DNA Res Inst, Dept Human Genome Technol, Chiba, Japan

[9] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Community Pediat Perinatal & Maternal Med, Tokyo, Japan

[10] Tokyo Med & Dent Univ, Grad Sch Med, Dept Pediat & Dev Biol, Tokyo, Japan

[11] Hokkaido Univ, Grad Sch Med, Fac Med, Dept Pediat, Sapporo, Hokkaido, Japan

来源：

CLINICAL IMMUNOLOGY | 2019年 / 208卷

关键词：

Hereditary folate malabsorption (HFM); SLC46A1; Proton-coupled folate transporter (PCFT); Megaloblastic anemia; Deep intronic mutation; TRANSPORTER GENE PCFT-SLC46A1; OF-FUNCTION MUTATION; IMMUNODEFICIENCY; IMPACT; PCFT;

D O I：

10.1016/j.clim.2019.108256

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Hereditary folate malabsorption (HFM) is an autosomal recessive disease caused by mutations in SLC46A1 encoding the proton-coupled folate transporter (PCFT). HFM patients present with various clinical features including megaloblastic anemia, thrombocytopenia, combined immunodeficiency and neurodevelopmental disorders. In this study, we report the same deep intronic mutation of c.1166-285 T > G shared by four unrelated Japanese patients with HFM. This mutation was shown to generate a cryptic splice donor site for a 168-bp insertion of intron 3 sequences, leading to premature termination in the middle of this insertion. This mutation could be a founder mutation in the Japanese population, but also could be a hot-spot and could be present in undiagnosed HFM patients worldwide because of the difficulty to detect this mutation.

引用

页数：6

A deep intronic mutation of c.1166-285 T &gt; G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM)

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM)